Deletion of the Steroid-Binding Domain of the Human Androgen Receptor Gene in One Family with Complete Androgen Insensitivity Syndrome: Evidence for Further Genetic Heterogeneity in this Syndrome

The cloning of a cDNA for the human androgen receptor gene has resulted in the availability of cDNA probes that span various parts of the gene, including the entire steroid-binding domain and part of the DNA-binding domain, as well as part of the 5′ region of the gene. The radiolabeled probes were u...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 1988-11, Vol.85 (21), p.8151-8155
Hauptverfasser:	Brown, Terry R., Lubahn, Dennis B., Wilson, Elizabeth M., Joseph, David R., French, Frank S., Migeon, Claude J.
Format:	Artikel
Sprache:	eng
Schlagworte:	550401 - Genetics- Tracer Techniques Androgen insensitivity syndrome Androgen receptors ANDROGENS ANDROSTANES ANIMAL CELLS BASIC BIOLOGICAL SCIENCES BETA DECAY RADIOISOTOPES BETA-MINUS DECAY RADIOISOTOPES Biological and medical sciences BIOLOGICAL MATERIALS BLOOD BLOOD CELLS Blotting, Southern BODY FLUIDS CHROMOSOMAL ABERRATIONS Chromosome Deletion CHROMOSOMES CLONING Cloning, Molecular Complementary DNA CONNECTIVE TISSUE CELLS DAYS LIVING RADIOISOTOPES Deoxyribonuclease BamHI - metabolism Deoxyribonuclease EcoRI - metabolism DISEASES Disorders of Sex Development - genetics DNA DNA - analysis DNA HYBRIDIZATION DNA probes DNA-CLONING ETIOLOGY Female FIBROBLASTS GENES Genetic mutation Genitalia GENOME MUTATIONS Gynecology. Andrology. Obstetrics HEREDITARY DISEASES HETEROCHROMOSOMES HORMONES Humans HYBRIDIZATION ISOTOPES Karyotyping LEUKOCYTES LIGHT NUCLEI Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Male genital diseases MATERIALS Medical sciences MEMBRANE PROTEINS MUTATIONS Non tumoral diseases NUCLEI NUCLEIC ACIDS ODD-ODD NUCLEI ORGANIC COMPOUNDS PATIENTS Pedigree PHOSPHORUS 32 PHOSPHORUS ISOTOPES PROTEINS RADIOISOTOPES RECEPTORS Receptors, Androgen - genetics RECOMBINANT DNA SOMATIC CELLS STEROID HORMONES STEROIDS X CHROMOSOME
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